5|25: Celebrating Five Years of Autism Science Day 13: AGP Releases First Results

In honor of the anniversary of Autism Speaks’ founding on Feb 25, for the next 25 days we will be sharing stories about the many significant scientific advances that have occurred during our first five years together. Our 13th item, AGP Releases First Results, is from Autism Speaks’ Top 10 Autism Research Events of 2007.

Launched in 2004 by Autism Speaks, the Autism Genome Project, or AGP, is the largest study ever conducted to find the genes associated with risk for developing autism. Comprised of approximately 50 academic and research institutions representing 19 countries, many of the world’s leading genetics researchers pooled their resources and used a promising new technology, the DNA microarray, to scan the human genome in search of the genetic causes of this devastating disorder. In 2007, the first of several planned analyses was made public.

The first phase of the project, a research partnership with the National Institutes of Health, consisted of two scans of the human genome searching for regions that may harbor autism susceptibility genes. The scans analyzed DNA samples from nearly 1,200 families and in February the preliminary results were reported in the leading international journal Nature Genetics. The AGRE collection made up almost one third of the samples for this study. Highlights include the identification of a novel region on chromosome 11, additional support for previously identified regions on chromosome 2 and 7, linkage signals that appear to be present only in affected girls, and the identification of a specific candidate gene, neurexin, associated with copy number variations (CNV).

Completion of the first phase of AGP showed the world that scientists could work together to tackle the complexities of autism. Autism Speaks was a leading voice in the formation of AGP, as it believes that breakthroughs will happen faster if researchers unite in their efforts. Given the heterogeneity in underlying risk factors in autism, expansion of consortia such as AGP will absolutely be required.

Did you know?: In order to form the Autism Genome Project, Autism Speaks brought together 170 of the world’s leading geneticists. With over 3,500 families in its dataset, the AGP is the largest collaboration in the world to study the genetics of autism. By using state-of-the-art technologies and combining their results across sites, AGP and its members have been involved with every major autism genetic discovery reported over the past two years. With more major findings expected from the consortium in the near future, the AGP is now widely recognized as major force in the field of autism genetics.